| Property |
Value |
| Working Groups |
RG Wollnik |
| Subproject |
None |
| Open Access |
Yes |
| Publication Type |
Journal Article |
| Peer Reviewed |
Yes |
| PMID |
36943452 |
| DOI |
10.1007/s00439-023-02528-2 |
| Publication Year |
2023 |
| Title |
Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly |
| Journal |
Human Genetics |
| ISSN |
0340-6717 |
| eISSN |
1432-1203 |
| URL |
http://dx.doi.org/10.1007/s00439-023-02528-2 |
| Pages |
543-552 |
| Issue |
4 |
| Volume |
142 |
| Journal Abbreviation |
Hum Genet |
| Authors |
Schnabel F, Schuler E, Al-Maawali A, Chaurasia A, Syrbe S, Al-Kindi A, Bhavani GS, Shukla A, Altmüller J, Nürnberg P, Banka S, Girisha KM, Li Y, Wollnik B, Yigit G |
| First Author |
Schnabel F |
| Last Author |
Yigit G |
External Resources
2/124396https://publications.goettingen-research-online.de/handle/2/124396 GRO.publications identifier
core.ac....17.pdfhttps://core.ac.uk/download/pdf/564340617.pdf Article fulltext
0000-0002-9966-8937https://orcid.org/0000-0002-9966-8937 ORCID identifier (Franziska Schnabel)
0000-0002-1404-8887https://orcid.org/0000-0002-1404-8887 ORCID identifier (Almundher Al-Maawali)
0000-0002-7890-4590https://orcid.org/0000-0002-7890-4590 ORCID identifier (Ankur Chaurasia)
0000-0003-2543-4844https://orcid.org/0000-0003-2543-4844 ORCID identifier (Steffen Syrbe)
0000-0001-5284-8909https://orcid.org/0000-0001-5284-8909 ORCID identifier (Gandham SriLakshmi Bhavani)
0000-0002-7228-428Xhttps://orcid.org/0000-0002-7228-428X ORCID identifier (Peter Nürnberg)
0000-0002-8527-2210https://orcid.org/0000-0002-8527-2210 ORCID identifier (Siddharth Banka)
0000-0002-0139-8239https://orcid.org/0000-0002-0139-8239 ORCID identifier (Katta M. Girisha)
0000-0003-2589-0364https://orcid.org/0000-0003-2589-0364 ORCID identifier (Bernd Wollnik)
0000-0003-2777-0198https://orcid.org/0000-0003-2777-0198 ORCID identifier (Gökhan Yigit)
021ft0n22https://ror.org/021ft0n22 ROR identifier (021ft0n22, University Medical Center Göttingen)
028hv5492https://ror.org/028hv5492 ROR identifier (028hv5492, University Hospital Leipzig)
013czdx64https://ror.org/013czdx64 ROR identifier (013czdx64, University Hospital Heidelberg)
04wq8zb47https://ror.org/04wq8zb47 ROR identifier (04wq8zb47, Sultan Qaboos University)
049xx5c95https://ror.org/049xx5c95 ROR identifier (049xx5c95, Sultan Qaboos University Hospital)
05hg48t65https://ror.org/05hg48t65 ROR identifier (05hg48t65, Kasturba Medical College, Manipal)
027m9bs27https://ror.org/027m9bs27 ROR identifier (027m9bs27, University of Manchester)
00rcxh774https://ror.org/00rcxh774 ROR identifier (00rcxh774, University of Cologne)
0493xsw21https://ror.org/0493xsw21 ROR identifier (0493xsw21, Berlin Institute of Health at Charité - Universitätsmedizin Berlin)
04p5ggc03https://ror.org/04p5ggc03 ROR identifier (04p5ggc03, Max Delbrück Center for Molecular Medicine)
00he80998https://ror.org/00he80998 ROR identifier (00he80998, Manchester University NHS Foundation Trust)
05xy1nn52https://ror.org/05xy1nn52 ROR identifier (05xy1nn52, Multiscale Bioimaging)
031t5w623https://ror.org/031t5w623 ROR identifier (031t5w623, German Centre for Cardiovascular Research)
SCR_022192https://scicrunch.org/resolver/SCR_022192 SciCrunch identifier (SCR_022192, BWA-MEM2)
SCR_013036https://scicrunch.org/resolver/SCR_013036 SciCrunch identifier (SCR_013036, cn.mops)
SCR_011793https://scicrunch.org/resolver/SCR_011793 SciCrunch identifier (SCR_011793, Integrative Genomics Viewer IGV)
SCR_023455https://scicrunch.org/resolver/SCR_023455 SciCrunch identifier (SCR_023455, Applied Biosystems StepOne Real Time PCR System)
SCR_014281https://scicrunch.org/resolver/SCR_014281 SciCrunch identifier (SCR_014281, StepOne Software)
mbexc.de...enita/https://mbexc.de/homozygous-loss-of-function-variants-in-filip1-cause-autosomal-recessive-arthrogryposis-multiplex-congenita/ Website entry (mbexc.de)